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Fetal screening

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https://www.readbyqxmd.com/read/28209489/the-systematic-error-in-the-estimation-of-fetal-weight-and-the-underestimation-of-fetal-growth-restriction
#1
Justin R Lappen, Stephen A Myers
Fetal growth restriction (FGR) is associated with an increased risk of perinatal morbidity and mortality and has lifetime implications for the risk of chronic medical conditions. Antenatal diagnosis of fetal growth restriction (FGR) remains poor with the majority of cases remaining undiagnosed. While several factors contribute to the underdiagnosis of FGR, the error in ultrasound estimation of fetal weight (EFW) is generally not considered in clinical practice. In this commentary, we suggest that the intrinsic, or systematic, error in ultrasound EFW is a significant factor contributing to the underestimation of fetuses predicted to have FGR and should be incorporated into screening and surveillance recommendations...
February 13, 2017: American Journal of Obstetrics and Gynecology
https://www.readbyqxmd.com/read/28207935/false-negative-fetal-cell-free-dna-screening-for-microdeletion-syndromes-in-the-presence-of-an-unbalanced-translocation-involving-monosomy-4p
#2
Zhongxia Qi, Shreshtha Madaan, Shilpa Chetty, Jingwei Yu, Arun P Wiita
No abstract text is available yet for this article.
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28207933/chorionic-villus-sampling-in-the-cell-free-dna-aneuploidy-screening-era-careful-selection-criteria-can-maximise-the-clinical-utility-of-screening-and-invasive-testing
#3
Stefan C Kane, Karen L Reidy, Fiona Norris, Deborah L Nisbet, Louise H Kornman, Ricardo Palma-Dias
OBJECTIVES: To quantify the impact of cell-free DNA (cfDNA) screening on chorionic villus sampling (CVS) test indications and outcomes in a tertiary maternity service. METHODS: Retrospective cohort study of all CVS procedures performed for any indication on singleton pregnancies at The Royal Women's Hospital, Melbourne, and at Women's Ultrasound Melbourne, Australia, between August 2008 and February 2015. Karyotypes were classified according to pathogenicity and detectability by standard cell-free DNA screening panels...
February 16, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28206709/women-who-choose-cfdna-testing-should-not-be-denied-1-st-trimester-anatomy-scan
#4
Zarko Alfirevic, Catia M Bilardo, Laurent J Salomon, Ann Tabor
It is important to acknowledge that modern antenatal care includes a variety of screening programmes. Each of them should be evaluated in their own right and, when clinical effectiveness is proven, integrated in the antenatal care in the most cost-effective fashion. Screening for common aneuploidies and fetal anomalies are two such programmes which are routinely offered world-wide. Both screening programmes include components that interact with each other which leads to a considerable confusion in the debate about their evaluation and implementation...
February 16, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
https://www.readbyqxmd.com/read/28196921/noninvasive-prenatal-screening-of-fetal-aneuploidy-without-massively-parallel-sequencing
#5
Chenming Xu, Ting Wang, Chao Liu, Hong Li, Xiaoyan Chen, Huanhuan Zhu, Songchang Chen, Qiuhong Xin, Jing Tao, Liming Huang, Zhengwen Jiang
BACKGROUND: Noninvasive prenatal screening (NIPS) using plasma cell-free DNA has gained tremendous popularity in the clinical assessment of fetal aneuploidy. Most, if not all, of these tests rely on complex and expensive massively parallel sequencing (MPS) techniques, hindering the use of NIPS as a common screening procedure. METHODS: We have developed and optimized an MPS-independent noninvasive genetic test that can rapidly detect fetal aneuploidy at considerably lower costs...
February 14, 2017: Clinical Chemistry
https://www.readbyqxmd.com/read/28191758/preclinical-analysis-of-fetal-human-mesencephalic-neural-progenitor-cell-lines-characterization-and-safety-in-vitro-and-in-vivo
#6
Jisook Moon, Sigrid C Schwarz, Hyun-Seob Lee, Jun Mo Kang, Young-Eun Lee, Bona Kim, Mi-Young Sung, Günter Höglinger, Florian Wegner, Jin Su Kim, Hyung-Min Chung, Sung Woon Chang, Kwang Yul Cha, Kwang-Soo Kim, Johannes Schwarz
We have developed a good manufacturing practice for long-term cultivation of fetal human midbrain-derived neural progenitor cells. The generation of human dopaminergic neurons may serve as a tool of either restorative cell therapies or cellular models, particularly as a reference for phenotyping region-specific human neural stem cell lines such as human embryonic stem cells and human inducible pluripotent stem cells. We cultivated 3 different midbrain neural progenitor lines at 10, 12, and 14 weeks of gestation for more than a year and characterized them in great detail, as well as in comparison with Lund mesencephalic cells...
February 2017: Stem Cells Translational Medicine
https://www.readbyqxmd.com/read/28188789/biomarker-identification-and-pathway-analysis-of-preeclampsia-based-on-serum-metabolomics
#7
Tingting Chen, Ping He, Yong Tan, Dongying Xu
Preeclampsia presents serious risk of both maternal and fetal morbidity and mortality. Biomarkers for the detection of preeclampsia are critical for risk assessment and targeted intervention. The goal of this study is to screen potential biomarkers for the diagnosis of preeclampsia and to illuminate the pathogenesis of preeclampsia development based on the differential expression network. Two groups of subjects, including healthy pregnant women, subjects with preeclampsia, were recruited for this study. The metabolic profiles of all of the subjects' serum were obtained by liquid chromatography quadruple time-of-flight mass spectrometry...
February 7, 2017: Biochemical and Biophysical Research Communications
https://www.readbyqxmd.com/read/28180962/cardiotocography-and-the-evolution-into-computerised-cardiotocography-in-the-management-of-intrauterine-growth-restriction
#8
REVIEW
Christina Kouskouti, Kerstin Regner, Julia Knabl, Franz Kainer
Timely recognition and appropriate management of high-risk pregnancies, such as intrauterine growth restriction (IUGR), are of paramount importance for every obstetrician. After the initial screening of IUGR fetuses through sonographic fetometry and Doppler, the focus is shifted to the appropriate monitoring and timing of delivery. This can, especially in cases of early IUGR, become a very difficult task. At this point, cardiotocography (CTG) is introduced as a major tool in the day-to-day monitoring of the antenatal well-being of the IUGR fetus...
February 8, 2017: Archives of Gynecology and Obstetrics
https://www.readbyqxmd.com/read/28180202/applicability-and-technical-aspects-of-two-dimensional-ultrasonography-for-assessment-of-fetal-heart-function
#9
REVIEW
Nathalie Jeanne Bravo-Valenzuela, Alberto Borges Peixoto, Luciano Marcondes Nardozza, Alex Sandro Souza, Edward Araujo Júnior
In recent years, fetal echocardiography has been used for the screening and diagnosis of anatomical heart defects and for the detailed study of fetal cardiac function. This method is characterized by its easy implementation and good reproducibility, allowing the diagnosis of myocardial dysfunction even in its subclinical phase. The functional assessment of the fetal heart should be routinely performed in fetuses with congenital heart disease and those without anatomical malformation. Several extra-cardiac conditions may alter fetal cardiac function, by increased placental resistance, volume overload or hyperdynamic circulation, compression, or maternal systemic disease with involvement of the fetal myocardium...
January 31, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28180199/ultrasound-and-mri-comprehensive-approach-in-prenatal-diagnosis-of-fetal-osteochondrodysplasias-cases-series
#10
Costin Berceanu, Ioana Andreea Gheonea, Simona Vlădăreanu, Monica Mihaela Cîrstoiu, Radu Vlădăreanu, Claudia Mehedinţu, Sabina Berceanu, Răzvan Ciortea, Elvira Brătilă
AIM: To present the systematic ultrasonographic assessment in fetal osteochondrodysplasias and to evaluate the fetal MRI intake, as a complementary exploration to US, in the prenatal diagnosis and perinatal prognosis of fetal nonlethal osteochondrodysplasias. Material and methods: In this tertiary multicentre study were included 37 cases diagnosed prenatally with various entities in the category of nonlethal fetal osteochondrodysplasias. The initial diagnosis was carried out by the routine or detailed ultrasound examination...
January 31, 2017: Medical Ultrasonography
https://www.readbyqxmd.com/read/28180146/-i-think-we-ve-got-too-many-tests-prenatal-providers-reflections-on-ethical-and-clinical-challenges-in-the-practice-integration-of-cell-free-dna-screening
#11
B L Gammon, S A Kraft, M Michie, M Allyse
BACKGROUND: The recent introduction of cell-free DNA-based non-invasive prenatal screening (cfDNA screening) into clinical practice was expected to revolutionize prenatal testing. cfDNA screening for fetal aneuploidy has demonstrated higher test sensitivity and specificity for some conditions than conventional serum screening and can be conducted early in the pregnancy. However, it is not clear whether and how clinical practices are assimilating this new type of testing into their informed consent and counselling processes...
July 2016: Ethics, Medicine, and Public Health
https://www.readbyqxmd.com/read/28176187/brucellosis-and-associated-risk-factors-in-dairy-cattle-of-eastern-ethiopia
#12
Yitagele Terefe, Sisay Girma, Negesse Mekonnen, Biruhtesfa Asrade
Knowing the status of Bovine brucellosis and associated risk factors is a crucial step in formulating evidence based control scheme. In this study, a total of 967 dairy cows from 307 dairy farms in eastern Ethiopia were serologically tested for Brucella antibodies. The screening was done first using RBPT and positive samples were subsequently subjected to CFT for confirmation. A pre-tested structured questionnaire was used to collect relevant data from 307 dairy cattle owners or attendants to assess their awareness and routine practice...
February 7, 2017: Tropical Animal Health and Production
https://www.readbyqxmd.com/read/28171857/the-iona%C3%A2-test-development-of-an-automated-cell-free-dna-based-screening-test-for-fetal-trisomies-13-18-and-21-that-employs-the-ion-proton-semiconductor-sequencing-platform
#13
Francesco Crea, Matthew Forman, Rachel Hulme, Robert W Old, Dan Ryan, Rosalyn Mazey, Michael D Risley
OBJECTIVE: To develop a screening test for fetal trisomy 13, 18, and 21 using cell-free DNA from maternal blood with an automated workflow using the Ion Proton sequencing platform. METHODS: An automated next-generation sequencing workflow was developed using the Ion Proton sequencing platform and software developed for straightforward bioinformatic analysis. An algorithm was developed using 239 samples to determine the likelihood of trisomy, using DNA fragment counts and a fetal fraction validity check; the results were compared with those from invasive diagnostic procedures...
February 8, 2017: Fetal Diagnosis and Therapy
https://www.readbyqxmd.com/read/28169352/metacarpal-bone-plane-examination-by-ultrasonography-for-the-diagnosis-of-fetal-forearm-and-hand-deformity
#14
Leiping Zhou, Mingli Lv, Min Zeng, Yun Zhou, Tian Yang, Yu Yang, Yunyun Cao, Xiaoxiao Kong, Jianmei Niu
We explored the value of the metacarpal bone plane in screening for serious fetal forearm and hand deformities, excluding simple polydactyly and dactylion deformity, by ultrasonographic examination. Observed the second to fifth metacarpal bone plane of fetuses in 20,139 pregnant women at a gestational age of 16 to 30 weeks in The International Peace Maternity &Child Health Hospital of China Welfare Institute (IPMCH). There was a total 138 cases of fetal forearm and/or hand deformity among the 20,139 pregnant women...
February 7, 2017: Scientific Reports
https://www.readbyqxmd.com/read/28166604/smith-lemli-opitz-syndrome-carrier-frequency-and-estimates-of-in-utero-mortality-rates
#15
Gabriel A Lazarin, Imran S Haque, Eric A Evans, James D Goldberg
OBJECTIVE: To tabulate individual allele frequencies and total carrier frequency for Smith-Lemli-Opitz syndrome (SLOS) and compare expected versus observed birth incidences. METHODS: 262,399 individuals with no known indication or increased probability of SLOS carrier status, primarily US-based, were screened for SLOS mutations as part of an expanded carrier screening panel. Results were retrospectively analyzed to estimate carrier frequencies in multiple ethnic groups...
February 6, 2017: Prenatal Diagnosis
https://www.readbyqxmd.com/read/28165444/correlation-between-cervical-infection-and-preterm-labor
#16
Larisa Mešić Ðogić, Nenad Lučić, Dragana Mićić, Feđa Omeragić, Enes Hodžić, Seid Fazlagić, Refka Kovač, Nevenka Pavlović
Aim To investigate a correlation between cervical canal infection and imminent preterm labor and to identify most frequent pathogens. Methods A prospective study was conducted in obstetrics/gynecology departments of Health Center and the University Clinical Center Tuzla, and General Hospital Tešanj (Bosnia and Herzegovina, B&H) between October 2013 and May 2014. An examined group included 50 healthy pregnant women with singleton pregnancy of the gestation age between the 28th and 37th week, with cervical changes that are related to imminent preterm labor...
February 1, 2017: Medicinski Glasnik
https://www.readbyqxmd.com/read/28160403/the-utility-of-alpha-fetoprotein-screening-in-beckwith-wiedemann-syndrome
#17
Kelly A Duffy, Matthew A Deardorff, Jennifer M Kalish
Beckwith-Wiedemann syndrome (BWS) is one of the most common cancer predisposition disorders. As a result, BWS patients receive tumor screening as part of their clinical management. Until recently, this screening has been employed uniformly across all genetic and epigenetic causes of BWS, including the utilization of ultrasonography to detect abdominal tumors and alpha-fetoprotein (AFP) to detect hepatoblastoma. The advancements in our understanding of the genetics and epigenetics leading to BWS has evolved over time, and has led to the development of genotype/phenotype correlations...
February 4, 2017: American Journal of Medical Genetics. Part A
https://www.readbyqxmd.com/read/28158319/dnmt-1-maintains-hypermethylation-of-cag-promoter-specific-region-and-prevents-expression-of-exogenous-gene-in-fat-1-transgenic-sheep
#18
Chunrong Yang, Xueying Shang, Lei Cheng, Lei Yang, Xuefei Liu, Chunling Bai, Zhuying Wei, Jinlian Hua, Guangpeng Li
Methylation is an important issue in gene expression regulation and also in the fields of genetics and reproduction. In this study, we created fat-1 transgenic sheep, investigated the fine-mapping and the modulatory mechanisms of promoter methylation. Sheep fetal fibroblasts were transfected by pCAG-fat1-IRES-EGFP. Monoclonal cell line was screened as nuclear donor and carried out nuclear transfer (441 transgenic cloned embryos, 52 synchronism recipient sheep). Six offsprings were obtained. Expressions of exogenous genes fat-1 and EGFP were detectable in 10 examined tissues and upregulated omega-3 fatty acid content...
2017: PloS One
https://www.readbyqxmd.com/read/28140722/fetal-echocardiographic-findings-in-right-pulmonary-artery-to-left-atrium-communication-a-case-report-and-review-of-the-literature
#19
Tetsuya Ide, Takekazu Miyoshi, Taka-Aki Matsuyama, Ken-Ichi Kurosaki, Jun Yoshimatsu
Right pulmonary artery to left atrium communication (RPALA com) is a fatal congenital heart disease with right-to-left shunting. We present a rare case of RPALA com that was prenatally diagnosed and confirmed by autopsy. We focus on some unique echocardiographic findings for prenatal diagnosis of RPALA com by reviewing our case and the literature. Asymmetric cardiomegaly with a pear sign and dilatation of the pulmonary artery might be useful for screening tests. A larger stalk with the pear sign, high-velocity of shunt flow, and absence of a dilated pulmonary vein might support the prenatal diagnosis of RPALA com...
January 31, 2017: Journal of Maternal-fetal & Neonatal Medicine
https://www.readbyqxmd.com/read/28139875/global-network-for-women-s-and-children-s-health-research-probable-causes-of-stillbirth-in-low-and-middle-income-countries-using-a-prospectively-defined-classification-system
#20
E M McClure, A Garces, S Saleem, J L Moore, C L Bose, F Esamai, S S Goudar, E Chomba, M Mwenechanya, O Pasha, A Tshefu, A Patel, S M Dhaded, C Tenge, I Marete, M Bauserman, S Sunder, B S Kodkany, W A Carlo, R J Derman, P L Hibberd, E A Liechty, K M Hambidge, N F Krebs, M Koso-Thomas, M Miodovnik, D D Wallace, R L Goldenberg
OBJECTIVE: We sought to classify causes of stillbirth for six low-middle-income countries using a prospectively defined algorithm. DESIGN: Prospective, observational study. SETTING: Communities in India, Pakistan, Guatemala, Democratic Republic of Congo, Zambia and Kenya. POPULATION: Pregnant women residing in defined study regions. METHODS: Basic data regarding conditions present during pregnancy and delivery were collected...
January 31, 2017: BJOG: An International Journal of Obstetrics and Gynaecology
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